Gout is a common and complex form of arthritis that can affect anyone. It's characterized by sudden, severe attacks of pain, swelling, redness, and tenderness in one or more joints, most often in the big toe (cited from Mayo Clinic). One of the main risk factors of gout is a a high concentration of uric acid, an end-product of purine nucleotide metabolism. Serum uric acid (SUA) also plays a significant role in developing hypertension, metabolic syndrome, cardiovascular disease, and renal impairment. While balanced levels of SUA often depends on complex interactions between genetic and environmental factors.
Most studies of SUA’s have been conducted with people of European ancestry, and very little has been done with SUA in East Asian ethnicities is limited. Thus because of the the relatively small volume of genetic data for East Asians the extension of knowledge in genetic architecture for SUA levels is less known. Only a few GWASs on SUA in Japan and China and a few large-scale GWASs scanning genetic loci associated with SUA exist in other Asian populations.
To explore genetic factors associated with SUA in other Asian populations, researchers conducted a genome-wide meta-analysis of serum uric acid (SUA) based on Korea Biobank data consisting of three cohorts; the Korean Genome and Epidemiology Study (KoGES) Ansan and Ansung, KoGES Health Examinee, and KoGES Cardiovascular Disease Association studies. SUA levels were measured using the enzymatic colorimetric method. A meta-analysis was conducted by combining the analyses of the three GWASs (N=60,585). 8,105 variants at 22 genetic loci were significantly associated with SUA. Among these, 6 loci were novel, including rs7919329 in the LOC107984274 at chromosome 10 and rs2240751 in the MFSD12 at chromosome 19.
Additionally, rs3770636 in the LRP2 gene at chromosome 3 and rs9847710 in the SFMBT1 gene at chromosome 3 were identified as loci in high linkage disequilibrium with previously reported SUA-associated variants. While the rs6770152 in SFMBT1 is a well known genetic variant for european populations, the rs2240751 in MFSD12 is an Asian-specific variant associated with SUA. This is important because it helps unveil new findings and contribute to the knowledge gap of SUA, making SUA more known among diverse ethnic populations.
Since 60–70% of SUA is expelled via the kidney tubules, genetic variants associated with renal transporters might be key factors in controlling the balance of SUA. If you would like to know more about this research, you can read the study here:
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